Canonical Allele Identifier: CA2612220727
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390360-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390360C>G , CM000673.2:g.6390360C>G GRCh38
NC_000011.9:g.6411590C>G , CM000673.1:g.6411590C>G GRCh37
NC_000011.8:g.6368166C>G NCBI36
NG_011780.1:g.4936C>G

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-239C>G XP_005253132.1:n.-239C>G
XM_011520303.1:c.-239C>G XP_011518605.1:n.-239C>G
XM_011520304.1:c.-239C>G XP_011518606.1:n.-239C>G
XR_930886.1:n.60C>G